siRNAs targetting sphingomyelin phosphodiesterase 1 protect mouse oocytes from apoptosis / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the potential of siRNAs targeting sphingomyelin phosphodiesterase 1 (SMPD1) in protecting the oocytes from apoptosis, and explore new approaches to female fertility preservation.</p><p><b>METHODS</b>Chemically synthesized siRNA targeting SMPD1 were introduced into mouse oocytes retrieved by hyperstimulation, and the cell apoptosis was analyzed by comic assay 48 and 72 h later.</p><p><b>RESULTS</b>In the oocytes without any siRNA injection, oocyte DNA damage occurred after 24 h, and large amount of DNA fragments migrated from the cells 48 h later. In oocytes injected with siRNA003, DNA migration decreased significantly as compared with the control and the other two groups injected with siRNA001 and siRNA002 (P<0.01).</p><p><b>CONCLUSION</b>siRNA targeting SMPD1 may protect the oocytes from apoptosis, and has the potential for use in future female fertility preservation.</p>

A novel KIT gene mutation from a family with piebaldism in the southern part of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the gene mutation of a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.</p><p><b>RESULTS</b>G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.</p>